title: A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum.
abstract: A mother and daughter with an overlapping Catel-Manzke and Temtamy preaxial brachydactyly hyperphalangism syndrome phenotype are reported. We describe a phenotype with a previously undescribed genetic basis. .
authors.affiliation: Department of Clinical Genetics, University Hospitals Bristol, Bristol, UK. karen.low1@nhs.net
authors.forename: Karen
authors.initials: K
authors.lastname: Low
authors.forename: James
authors.initials: J
authors.lastname: Smith
authors.forename: Simon
authors.initials: S
authors.lastname: Lee
authors.forename: Ruth
authors.initials: R
authors.lastname: Newbury-Ecob
mesh_terms: D055028:Comparative Genomic Hybridization; D005260:Female; D005532:Foot Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D005660:Funnel Chest / Q000175:diagnosis* / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D009035:Mothers; D009679:Nuclear Family; D010641:Phenotype
keywords: brachydactyly; broad hallux; delta phalanx; deviated toes; hypoplastic thumbs; pectus deformity